A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism
Elliot Imler, Jin Sang Pyon, Selina M. Kindelay, Meaghan Torvund, Yong-quan Zhang, Sreeganga S. Chandra, Konrad E. Zinsmaier
This study develops a Drosophila model of CLN4 NCL, showing that CLN4 mutations cause hypermorphic gain of function through excessive oligomerization and impaired membrane trafficking.
eLife · Oct 30, 2019Peer-reviewedNeuroscience